A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591151



Internal ID16031874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100603199..100714748hg38UCSC Ensembl
Innerchr3:100322043..100433592hg19UCSC Ensembl
Innerchr3:101804733..101916282hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38111550
hg19111550
hg18111550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8476n54
Supporting Variantsnssv970681, nssv970680
Samples
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591151
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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